Mutagenetix > Incidental Mutation

Incidental Mutation 'R8132:Or10q1b'

632095

Institutional Source

Beutler Lab

Gene Symbol

Or10q1b

Ensembl Gene

ENSMUSG00000051156

Gene Name

olfactory receptor family 10 subfamily Q member 1B

Synonyms

MOR266-8, Olfr1491, GA_x6K02T2RE5P-4037809-4038768

MMRRC Submission

067895-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8132 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

13682193-13683152 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 13682584 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Tyrosine at position 131 (C131Y)

Ref Sequence

ENSEMBL: ENSMUSP00000151038 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000052737] [ENSMUST00000214007] [ENSMUST00000215493] [ENSMUST00000216366] [ENSMUST00000216377] [ENSMUST00000216622]

AlphaFold

Q8VEZ5

Predicted Effect

probably damaging
Transcript: ENSMUST00000052737
AA Change: C131Y

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000057902
Gene: ENSMUSG00000051156
AA Change: C131Y

Domain	Start	End	E-Value	Type
Pfam:7tm_4	35	314	3.3e-52	PFAM
Pfam:7tm_1	45	295	5.9e-24	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000214007
AA Change: C131Y

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

Predicted Effect

probably damaging
Transcript: ENSMUST00000215493
AA Change: C131Y

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

Predicted Effect

probably damaging
Transcript: ENSMUST00000216366
AA Change: C131Y

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

Predicted Effect

probably damaging
Transcript: ENSMUST00000216377
AA Change: C131Y

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

Predicted Effect

probably damaging
Transcript: ENSMUST00000216622
AA Change: C131Y

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

Coding Region Coverage

1x: 99.8%
3x: 99.6%
10x: 98.6%
20x: 94.2%

Validation Efficiency

MGI Phenotype

FUNCTION: Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb10	C	T	8: 124,691,757 (GRCm39)	A403T		Het
Abhd16b	G	A	2: 181,135,760 (GRCm39)	A221T	probably damaging	Het
Arhgef1	C	T	7: 24,607,087 (GRCm39)		probably benign	Het
Arhgef1	C	T	7: 24,619,174 (GRCm39)	Q472*	probably null	Het
Calr3	C	T	8: 73,181,023 (GRCm39)	G298S	probably damaging	Het
Chrng	A	G	1: 87,133,718 (GRCm39)	T15A	unknown	Het
CK137956	T	A	4: 127,845,075 (GRCm39)	K223*	probably null	Het
Clca3b	A	T	3: 144,552,935 (GRCm39)	S97T	probably benign	Het
Cops7b	G	T	1: 86,514,916 (GRCm39)	G102V	probably damaging	Het
Dennd1a	T	A	2: 37,748,072 (GRCm39)	S382C	probably damaging	Het
Fdps	G	A	3: 89,006,693 (GRCm39)	Q66*	probably null	Het
Gemin4	T	C	11: 76,103,739 (GRCm39)	T341A	probably benign	Het
Grk3	A	G	5: 113,109,355 (GRCm39)	S201P	unknown	Het
Hgf	C	T	5: 16,807,329 (GRCm39)	T407I	probably damaging	Het
Hip1r	C	T	5: 124,135,290 (GRCm39)	R446C	probably damaging	Het
Hyal6	A	T	6: 24,740,827 (GRCm39)	I327L	possibly damaging	Het
Ifna15	T	C	4: 88,475,920 (GRCm39)	E188G	possibly damaging	Het
Igip	A	G	18: 36,434,266 (GRCm39)	S11G	probably benign	Het
Igkv5-39	A	G	6: 69,877,589 (GRCm39)	Y56H	probably damaging	Het
Jph1	G	A	1: 17,086,379 (GRCm39)	T381I	probably damaging	Het
Lrrc55	T	C	2: 85,022,259 (GRCm39)	I311V	probably benign	Het
Mrps35	T	A	6: 146,949,661 (GRCm39)	D58E	probably benign	Het
Ms4a4d	C	A	19: 11,535,310 (GRCm39)	P203T	probably benign	Het
Naip1	T	G	13: 100,573,883 (GRCm39)	E225D	possibly damaging	Het
Ncapg2	T	A	12: 116,407,967 (GRCm39)	I989N	possibly damaging	Het
Nek3	A	T	8: 22,647,036 (GRCm39)	Y166*	probably null	Het
Nphs1	A	G	7: 30,181,478 (GRCm39)	E1169G	probably benign	Het
Nudt15	G	A	14: 73,759,099 (GRCm39)	P123L	probably benign	Het
Or10c1	T	A	17: 37,522,207 (GRCm39)	E179V	probably damaging	Het
Or5ac22	T	C	16: 59,134,907 (GRCm39)	I288V	possibly damaging	Het
Or6k14	T	A	1: 173,927,737 (GRCm39)	S238T	probably damaging	Het
Or8a1b	C	T	9: 37,623,369 (GRCm39)	V69M	probably benign	Het
Pcdha5	T	C	18: 37,093,694 (GRCm39)	S68P	possibly damaging	Het
Plec	G	T	15: 76,074,773 (GRCm39)	A330E	unknown	Het
Rpa3	A	C	6: 8,256,790 (GRCm39)	I63S	probably damaging	Het
Rsf1	CG	CGACGGCGGGG	7: 97,229,115 (GRCm39)		probably benign	Het
Snap25	A	T	2: 136,611,748 (GRCm39)	K83N	probably benign	Het
Sos1	T	G	17: 80,716,031 (GRCm39)	Q977P	probably damaging	Het
Spag16	A	G	1: 70,420,461 (GRCm39)	Y483C	probably damaging	Het
Speg	A	G	1: 75,399,639 (GRCm39)	E2362G	probably damaging	Het
Swap70	A	G	7: 109,855,084 (GRCm39)	D128G	probably damaging	Het
Syngap1	G	A	17: 27,177,154 (GRCm39)	M545I	probably damaging	Het
Tdpoz6	G	A	3: 93,599,452 (GRCm39)	Q306*	probably null	Het
Tmem147	T	C	7: 30,427,872 (GRCm39)	E110G	probably damaging	Het
Tmem156	T	A	5: 65,233,098 (GRCm39)	I155F	probably benign	Het
Trim25	C	A	11: 88,907,432 (GRCm39)	A597E	probably damaging	Het
Ttc7b	T	C	12: 100,413,131 (GRCm39)	Y229C	probably damaging	Het
Utrn	T	A	10: 12,558,154 (GRCm39)	Q1435L	probably damaging	Het
Zbtb41	T	C	1: 139,350,955 (GRCm39)	S23P	probably benign	Het
Zeb2	T	A	2: 44,879,142 (GRCm39)	I1075F	probably damaging	Het

Other mutations in Or10q1b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00958:Or10q1b	APN	19	13,683,096 (GRCm39)	missense	probably benign	0.05
IGL02713:Or10q1b	APN	19	13,682,553 (GRCm39)	missense	possibly damaging	0.78
IGL02822:Or10q1b	APN	19	13,683,019 (GRCm39)	missense	probably benign	0.13
R0083:Or10q1b	UTSW	19	13,683,042 (GRCm39)	missense	probably damaging	0.99
R0108:Or10q1b	UTSW	19	13,683,042 (GRCm39)	missense	probably damaging	0.99
R0271:Or10q1b	UTSW	19	13,682,499 (GRCm39)	missense	probably benign	0.03
R1364:Or10q1b	UTSW	19	13,682,809 (GRCm39)	missense	probably benign	0.11
R1538:Or10q1b	UTSW	19	13,682,860 (GRCm39)	missense	probably damaging	1.00
R1575:Or10q1b	UTSW	19	13,682,889 (GRCm39)	missense	probably benign	0.00
R1579:Or10q1b	UTSW	19	13,682,566 (GRCm39)	missense	probably damaging	1.00
R2179:Or10q1b	UTSW	19	13,682,758 (GRCm39)	missense	probably damaging	0.98
R4393:Or10q1b	UTSW	19	13,682,554 (GRCm39)	missense	possibly damaging	0.50
R5837:Or10q1b	UTSW	19	13,682,324 (GRCm39)	nonsense	probably null
R6001:Or10q1b	UTSW	19	13,682,424 (GRCm39)	missense	probably damaging	0.98
R8064:Or10q1b	UTSW	19	13,682,386 (GRCm39)	missense	probably damaging	1.00
R8294:Or10q1b	UTSW	19	13,683,010 (GRCm39)	missense	probably benign	0.02
R8380:Or10q1b	UTSW	19	13,682,608 (GRCm39)	missense	probably benign	0.11
R9608:Or10q1b	UTSW	19	13,682,868 (GRCm39)	missense	probably damaging	1.00
Z1176:Or10q1b	UTSW	19	13,682,567 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGTCTGTCTTTCCTGGAAATATGC -3'
(R):5'- CCTGGTGCACATGAATGTCAG -3'

Sequencing Primer
(F):5'- TTTCCTGGAAATATGCTACACCACAG -3'
(R):5'- TGCACATGAATGTCAGCACAG -3'

Posted On

2020-06-30